Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162970 Orphanet classification of rare infertility disorders 98047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98047 Rare infertility Category 98048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98048 Rare male infertility Category 98343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98343 Male infertility due to obstructive azoospermia Category 48 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 Congenital bilateral absence of vas deferens Morphological anomaly 399824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399824 Rare disorder with obstructive azoospermia Category 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 Cystic fibrosis Disease 731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 Autosomal recessive polycystic kidney disease Disease 645874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645874 Primary genito-urinary tuberculosis Disease 548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548 Leprosy Disease 2856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 Persistent Müllerian duct syndrome Malformation syndrome 3471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471 Young syndrome Disease 730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 Autosomal dominant polycystic kidney disease Disease 399572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder Category 2965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 Prolactinoma Disease 91 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 Aromatase deficiency Disease 174590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 Congenital hypogonadotropic hypogonadism Category 181387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Category 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Prader-Willi syndrome Disease 98754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Etiological subtype 98793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Etiological subtype 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Etiological subtype 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Etiological subtype 177907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to translocation Etiological subtype 177910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation Etiological subtype 2377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 Laurence-Moon syndrome Malformation syndrome 1173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 Cerebellar ataxia-hypogonadism syndrome Disease 1180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 Ataxia-hypogonadism-choroidal dystrophy syndrome Disease 1387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 Cataract-intellectual disability-hypogonadism syndrome Malformation syndrome 2230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Disease 2235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Disease 2250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Disease 2560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Malformation syndrome 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 2326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 Kallmann syndrome-heart disease syndrome Malformation syndrome 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 88637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Clinical subtype 157954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 ANE syndrome Disease 293967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Malformation syndrome 398073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 Prader-Willi-like syndrome Clinical group 633028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 CPE-related Prader-Willi-like syndrome Disease 171829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 6q16 microdeletion syndrome Disease 398079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 SIM1-related Prader-Willi-like syndrome Disease 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 Schaaf-Yang syndrome Disease 1295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 Brachytelephalangy-dysmorphism-Kallmann syndrome Malformation syndrome 453533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 Polyendocrine-polyneuropathy syndrome Disease 181390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Category 66628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 Obesity due to congenital leptin deficiency Etiological subtype 71528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 Obesity due to prohormone convertase I deficiency Etiological subtype 90695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 Non-acquired panhypopituitarism Disease 95494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 Combined pituitary hormone deficiencies, genetic forms Disease 95700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone Disease 95702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 X-linked adrenal hypoplasia congenita Disease 179494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 Obesity due to leptin receptor gene deficiency Etiological subtype 238666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 Isolated congenital hypogonadotropic hypogonadism Disease 478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 Kallmann syndrome Clinical subtype 432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 Normosmic congenital hypogonadotropic hypogonadism Clinical subtype 52901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 Isolated follicle stimulating hormone deficiency Disease 397685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 Familial hyperprolactinemia Disease 399584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399584 Rare male infertility due to adrenal disorder Category 90793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Disease 90794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Disease 315306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Clinical subtype 315311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Clinical subtype 99892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892 ACTH-dependent Cushing syndrome Clinical group 96253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 Cushing disease Disease 99889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889 Cushing syndrome due to ectopic ACTH secretion Disease 189427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427 Cushing syndrome due to bilateral macronodular adrenocortical disease Disease 325529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype 399685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399685 Rare male infertility due to testicular endocrine disorder Category 481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 Kennedy disease Disease 752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Disease 753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Disease 755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 Leydig cell hypoplasia Disease 96265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 Leydig cell hypoplasia due to complete LH resistance Clinical subtype 96266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 Leydig cell hypoplasia due to partial LH resistance Clinical subtype 325448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 Leydig cell hypoplasia due to LHB deficiency Clinical subtype 754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 Androgen insensitivity syndrome Clinical group 90797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 Partial androgen insensitivity syndrome Disease 99429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 Complete androgen insensitivity syndrome Disease 181441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441 Rare disorder with hypergonadotropic hypogonadism Category 3044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Malformation syndrome 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 2233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome Disease 606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 Proximal myotonic myopathy Disease 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 2229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Malformation syndrome 2232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome Disease 2234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Malformation syndrome 2410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 Hypergonadotropic hypogonadism-cataract syndrome Malformation syndrome 2558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558 Mikati-Najjar-Sahli syndrome Malformation syndrome 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 2183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 Hydrocephalus-obesity-hypogonadism syndrome Malformation syndrome 90646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 Deafness-hypogonadism syndrome Malformation syndrome 163971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 X-linked intellectual disability, Cilliers type Disease 163976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 X-linked intellectual disability, Van Esch type Malformation syndrome 280679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Disease 399764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399764 Male infertility due to gonadal dysgenesis or sperm disorder Category 98313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98313 Male infertility due to gonadal dysgenesis Category 983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 Testicular regression syndrome Morphological anomaly 1772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 45,X/46,XY mixed gonadal dysgenesis Malformation syndrome 393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 46,XX testicular difference of sex development Malformation syndrome 96263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 48,XXXY syndrome Malformation syndrome 96264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 49,XXXXY syndrome Malformation syndrome 99329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 48,XYYY syndrome Malformation syndrome 251510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 46,XY partial gonadal dysgenesis Malformation syndrome 325124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 Testicular agenesis Morphological anomaly 399771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399771 Male infertility due to sperm disorder Category 33364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 Trichothiodystrophy Disease 399775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399775 Male infertility with spermatogenesis disorder Category 1646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 Chromosome Y microdeletion syndrome Malformation syndrome 399786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399786 Male infertility with spermatogenesis disorder due to single gene mutation Category 399805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation Disease 399808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399808 Male infertility with teratozoospermia due to single gene mutation Disease 529970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529970 Male infertility due to acephalic spermatozoa Clinical subtype 137893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa Clinical subtype 171709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 Male infertility due to globozoospermia Clinical subtype 399813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399813 Male infertility due to sperm motility disorder Category 244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 Primary ciliary dyskinesia Disease 94064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 Deafness-infertility syndrome Malformation syndrome 276234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234 Non-syndromic male infertility due to sperm motility disorder Disease 98049 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98049 Rare female infertility Category 180151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 Rare vaginal malformation Category 65681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 Vaginal atresia Morphological anomaly 96269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 Isolated partial vaginal agenesis Morphological anomaly 180154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 Septate vagina Morphological anomaly 180157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 Longitudinal vaginal septum Clinical subtype 180160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 Transverse vaginal septum Clinical subtype 399831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder Category 963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 Acromegaly Disease 2965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 Prolactinoma Disease 91 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 Aromatase deficiency Disease 785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 Estrogen resistance syndrome Disease 397685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 Familial hyperprolactinemia Disease 399839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism Category 181390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Category 66628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 Obesity due to congenital leptin deficiency Etiological subtype 71528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 Obesity due to prohormone convertase I deficiency Etiological subtype 90695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 Non-acquired panhypopituitarism Disease 95494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 Combined pituitary hormone deficiencies, genetic forms Disease 95700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone Disease 95702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 X-linked adrenal hypoplasia congenita Disease 179494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 Obesity due to leptin receptor gene deficiency Etiological subtype 238666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 Isolated congenital hypogonadotropic hypogonadism Disease 478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 Kallmann syndrome Clinical subtype 432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 Normosmic congenital hypogonadotropic hypogonadism Clinical subtype 399846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Category 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Prader-Willi syndrome Disease 98754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Etiological subtype 98793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Etiological subtype 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Etiological subtype 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Etiological subtype 177907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to translocation Etiological subtype 177910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation Etiological subtype 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 398073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 Prader-Willi-like syndrome Clinical group 633028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 CPE-related Prader-Willi-like syndrome Disease 171829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 6q16 microdeletion syndrome Disease 398079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 SIM1-related Prader-Willi-like syndrome Disease 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 Schaaf-Yang syndrome Disease 399849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399849 Rare female infertility due to an adrenal disorder Category 752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Disease 90790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 Congenital lipoid adrenal hyperplasia due to STAR deficency Disease 325524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype 325529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype 90793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Disease 90794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Disease 315306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Clinical subtype 315311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Clinical subtype 99892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892 ACTH-dependent Cushing syndrome Clinical group 96253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 Cushing disease Disease 99889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889 Cushing syndrome due to ectopic ACTH secretion Disease 399853 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399853 Rare female infertility due to an anomaly of ovarian function Category 9 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 Tetrasomy X syndrome Malformation syndrome 3375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 Trisomy X syndrome Malformation syndrome 2297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 Insulin-resistance syndrome type A Disease 3143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143 Autoimmune polyendocrinopathy type 2 Disease 3453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 Autoimmune polyendocrinopathy type 1 Disease 75325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome Disease 79239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 Classic galactosemia Disease 96201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 X small rings syndrome Malformation syndrome 572354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Clinical subtype 399877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399877 Rare female infertility due to gonadal dysgenesis Category 444048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 46,XX ovarian dysgenesis-short stature syndrome Disease 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome Malformation syndrome 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Monosomy X syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype 99413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype 243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 46,XX gonadal dysgenesis Malformation syndrome 2138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 46,XX ovotesticular difference of sex development Malformation syndrome 2855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 Perrault syndrome Disease 642945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 Perrault syndrome type 1 Clinical subtype 642976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 Perrault syndrome type 2 Clinical subtype 251510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 46,XY partial gonadal dysgenesis Malformation syndrome 399882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399882 Rare female infertility due to an implantation defect Category 1916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 Diethylstilbestrol syndrome Malformation syndrome 3109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 Mayer-Rokitansky-Küster-Hauser syndrome Malformation syndrome 2578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Clinical subtype 247775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Clinical subtype 180122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 Septate uterus Clinical group 180126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 Complete septate uterus Morphological anomaly 180129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 Partial septate uterus Morphological anomaly 180142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 Absence of uterine body Morphological anomaly 180145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 Uterine cervical aplasia and agenesis Morphological anomaly 404469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404469 Rare female infertility due to oocyte maturation defect Category 488191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488191 Female infertility due to oocyte meiotic arrest Disease 404466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404466 Female infertility due to zona pellucida defect Disease